Results of a study of biochemical profile indicators in children with autism spectrum disorders associated with genetic deficiency of the folate cycle
Keywords:
immunodiagnostics, immunotherapy, neuropsychiatric disorders, children, diagnostics, therapySynopsis
Since pathogenic polymorphic nucleotide substitutions in the genes of the folate and methionine cycles, as shown by the results of a number of recent meta-analyses and systematic reviews of randomized controlled clinical trials, are an associated factor with the ASD phenotype in children, a natural question arises regarding the diagnostic significance of conducting appropriate genetic tests in the routine practice of child clinical psychiatry specialists, as well as which part of the wide spectrum of known biochemical disorders identified in children with ASD is directly and/or indirectly related to genetically determined disorders in the functionally interconnected metabolic cycles of folic acid and methionine. The efforts of a number of research groups are currently focused on solving these key problems, as there is an opportunity to obtain informative and clinically applicable folate-associated laboratory biomarkers for rational prediction, risk assessment, and determination of the severity of the condition of patients with ASD, as well as to provide effective and convenient tools for optimizing family planning processes, preparation for pregnancy and childbirth, prenatal diagnosis, postnatal secondary prevention, and therapy of ASD and a number of related comorbid pathological conditions.
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